mitochondrial complex 1 deficiency, nuclear type 35


deeah syndrome

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


combined oxidative phosphorylation deficiency 48


combined oxidative phosphorylation deficiency 49


combined oxidative phosphorylation deficiency 50


intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies


neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


spastic paraplegia 83, autosomal recessive


myopathy, epilepsy, and progressive cerebral atrophy


spinal muscular atrophy, infantile, James type


neurodevelopmental disorder with speech impairment and dysmorphic facies


combined oxidative phosphorylation deficiency 51


mitochondrial complex 4 deficiency, nuclear type 3


mitochondrial complex 4 deficiency, nuclear type 4


mitochondrial complex 4 deficiency, nuclear type 7


mitochondrial complex 4 deficiency, nuclear type 8


mitochondrial complex 4 deficiency, nuclear type 10


cleft palate, proliferative retinopathy, and developmental delay


neurodevelopmental disorder with alopecia and brain abnormalities


microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1


mitochondrial complex 4 deficiency, nuclear type 11


mitochondrial complex 4 deficiency, nuclear type 12


mitochondrial complex 4 deficiency, nuclear type 14


mitochondrial complex 4 deficiency, nuclear type 15


mitochondrial complex 4 deficiency, nuclear type 16


mitochondrial complex 4 deficiency, nuclear type 17


mitochondrial complex 4 deficiency, nuclear type 18


mitochondrial complex 4 deficiency, nuclear type 19


mitochondrial complex 4 deficiency, nuclear type 20


mitochondrial complex 4 deficiency, nuclear type 21


neurodevelopmental disorder with seizures and brain atrophy


neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


congenital cerebellar ataxia due to RNU12 mutation


autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome


infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome


mitochondrial complex IV deficiency, nuclear-type


hereditary angioedema with C1Inh deficiency


immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


inflammatory bowel disease-recurrent sinopulmonary infections syndrome


optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


infection-related hemolytic uremic syndrome


developmental and epileptic encephalopathy, 73


congenital myopathy with reduced type 2 muscle fibers


atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


early-onset calcifying leukoencephalopathy-skeletal dysplasia


spastic ataxia-dysarthria due to glutaminase deficiency


autosomal recessive extra-oral halitosis


primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome


intellectual disability-cardiac anomalies-short stature-joint laxity syndrome


intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome


frontonasal dysplasia-bifid nose-upper limb anomalies syndrome


microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome


diaphragmatic hernia-short bowel-asplenia syndrome


GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder


linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


male infertility due to acephalic spermatozoa


progressive dementia with neuroserpin inclusion bodies


PLG-related hereditary angioedema with normal C1inh


atypical hemolytic uremic syndrome with complement gene abnormality


Duane retraction syndrome with congenital deafness


TRIM22-related inflammatory bowel disease


POMGNT2-related limb-girdle muscular dystrophy R24


CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome


congenital autosomal recessive small-platelet thrombocytopenia


GJC2-related late-onset primary lymphedema


EPHB4-related lymphatic-related hydrops fetalis


CELSR1-related late-onset primary lymphedema


blepharophimosis-ptosis-epicanthus inversus syndrome plus


infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia


autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency


congenital infiltrating lipomatosis of the face


B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality


mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)


mixed phenotype acute leukemia with t(v;11q23.3)


congenital-onset Steinert myotonic dystrophy


childhood-onset Steinert myotonic dystrophy


juvenile-onset Steinert myotonic dystrophy


choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome


GNAO1-related developmental delay-seizures-movement disorder spectrum


TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome


combined immunodeficiency due to RELA haploinsufficiency


SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


hereditary angioedema with normal C1inh not related to F12 or PLG variant


idiopathic non-lupus full-house nephropathy


idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance


CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome


KLHL7-related cold-induced sweating-like syndrome


neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)


B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)


B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)


B-lymphoblastic leukemia/lymphoma with hyperdiploidy


B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)


spastic paraparesis-cataracts-speech delay syndrome


lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation


lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster


short-rib thoracic dysplasia 18 with polydactyly


Charcot-Marie-Tooth disease, dominant intermediate G


glycosylphosphatidylinositol biosynthesis defect 16


Ehlers-Danlos syndrome, arthrochalasia type, 2


neutropenia, severe congenital, 1, autosomal dominant


benign familial neonatal-infantile seizures 1


hearing loss, mixed conductive-sensorineural


otospondylomegaepiphyseal dysplasia, autosomal recessive


aortic aneurysm, familial thoracic 11, susceptibility to


congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


congenital heart defects and ectodermal dysplasia


hyperphenylalaninemia due to DNAJC12 deficiency


ectodermal dysplasia 13, hair/tooth type


neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination


brachycephaly, trichomegaly, and developmental delay


immunoskeletal dysplasia with neurodevelopmental abnormalities


intellectual disability, autosomal recessive 60


thrombocytopenia, anemia, and myelofibrosis


intellectual developmental disorder with gastrointestinal difficulties and high pain threshold


intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies


structural heart defects and renal anomalies syndrome


intellectual developmental disorder with neuropsychiatric features


developmental delay and seizures with or without movement abnormalities


polycystic liver disease 4 with or without kidney cysts


short-rib thoracic dysplasia 20 with polydactyly


childhood-onset benign chorea with striatal involvement


hyperparathyroidism, primary, caused by water clear cell hyperplasia


X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


EMILIN-1-related connective tissue disease


autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


female infertility due to oocyte meiotic arrest


retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


infantile-onset generalized dyskinesia with orofacial involvement


c11orf73-related autosomal recessive hypomyelinating leukodystrophy


congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome


early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


MME-related autosomal dominant Charcot Marie Tooth disease type 2


menstrual cycle-dependent periodic fever


MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome


early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome


SIN3A-related intellectual disability syndrome due to a point mutation


childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


severe combined immunodeficiency due to LAT deficiency


combined immunodeficiency due to GINS1 deficiency


psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


autosomal recessive epidermolytic ichthyosis


nodular lymphocyte predominant Hodgkin lymphoma


avascular necrosis of femoral head, primary, 1


avascular necrosis of femoral head, primary, 2


congenital disorder of glycosylation, type IIq


short-rib thoracic dysplasia 17 with or without polydactyly


Noonan syndrome-like disorder with loose anagen hair 2


microcephaly 18, primary, autosomal dominant


gaze palsy, familial horizontal, with progressive scoliosis, 2


Noonan syndrome-like disorder with loose anagen hair 1


combined oxidative phosphorylation deficiency 32


combined oxidative phosphorylation deficiency 33


myopathy, centronuclear, 6, with fiber-type disproportion


immunodeficiency 11b with atopic dermatitis


proteasome-associated autoinflammatory syndrome 3


proteasome-associated autoinflammatory syndrome 2


Kleefstra syndrome 2

Autosomal dominant germline de novo mutation


microcephaly 19, primary, autosomal recessive


combined oxidative phosphorylation deficiency 34


combined oxidative phosphorylation deficiency 35


polycystic liver disease 3 with or without kidney cysts


amyotrophic lateral sclerosis, susceptibility to, 24


encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8


microcephaly 20, primary, autosomal recessive


neurodegeneration with brain iron accumulation 7


neurodegeneration with brain iron accumulation 8


amyloidosis, primary localized cutaneous, 3


epilepsy, familial focal, with variable foci 4


combined oxidative phosphorylation deficiency 36


multiple mitochondrial dysfunctions syndrome 6


hydrocephalus, congenital, 3, with brain anomalies


microcephaly 21, primary, autosomal recessive


microcephaly 22, primary, autosomal recessive


microcephaly 23, primary, autosomal recessive


corneal dystrophy, posterior polymorphous, 4


Charcot-Marie-tooth disease, axonal, type 2DD


classic dopamine transporter deficiency syndrome


intellectual disability, autosomal dominant 57


cardiomyopathy, familial hypertrophic 27


polycystic kidney disease 6 with or without polycystic liver disease


developmental and epileptic encephalopathy, 66


intellectual disability, autosomal recessive 63


neurodevelopmental disorder with midbrain and hindbrain malformations


cerebral sclerosis, diffuse, scholz type


autoinflammation with arthritis and dyskeratosis


arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies


neurodevelopmental disorder with involuntary movements


neurodevelopmental disorder with hypotonia, neuropathy, and deafness


neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


retinal dystrophy with or without macular staphyloma


congenital heart defects and skeletal malformations syndrome


microcephaly, short stature, and limb abnormalities


congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


cerebellar atrophy, developmental delay, and seizures


vertebral, cardiac, renal, and limb defects syndrome 1


vertebral, cardiac, renal, and limb defects syndrome 2


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


neurodevelopmental disorder with microcephaly, ataxia, and seizures


neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


auditory neuropathy-optic atrophy syndrome


platelet abnormalities with eosinophilia and immune-mediated inflammatory disease


neuronopathy, distal hereditary motor, type 9


facial palsy, congenital, with ptosis and velopharyngeal dysfunction


immunodeficiency, developmental delay, and hypohomocysteinemia


neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia


neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


neurodevelopmental disorder with severe motor impairment and absent language


neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


glycosylphosphatidylinositol biosynthesis defect 15


neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


neurodevelopmental disorder with or without seizures and gait abnormalities


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


Leber congenital amaurosis with early-onset deafness


neurodevelopmental disorder with poor language and loss of hand skills


congenital heart defects, multiple types, 5


neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome


amyotrophic lateral sclerosis, susceptibility to, 25


epilepsy, juvenile myoclonic, susceptibility to, 10


spondyloepimetaphyseal dysplasia, di rocco type


neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


deafness, congenital heart defects, and posterior embryotoxon


tumoral calcinosis, hyperphosphatemic, familial, 2


tumoral calcinosis, hyperphosphatemic, familial, 3


glycosylphosphatidylinositol biosynthesis defect 17


humerofemoral hypoplasia with radiotibial ray deficiency


intellectual developmental disorder with or without epilepsy or cerebellar ataxia


neurodevelopmental disorder with spasticity and poor growth


spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities


susceptibility to angioedema induced by ACE inhibitors


epidermodysplasia verruciformis, susceptibility to, 1


graft-versus-host disease, susceptibility to


methicillin-resistant staphylococcus aureus infectious disease


developmental and epileptic encephalopathy, 6A


neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures


focal segmental glomerulosclerosis and neurodevelopmental syndrome


adult acute respiratory distress syndrome


pediatric acute respiratory distress syndrome


radioulnar synostosis, nonsyndromic, susceptibility to


GTP cyclohydrolase I deficiency with hyperphenylalaninemia


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


IFAP syndrome 1, with or without BRESHECK syndrome


Rajab interstitial lung disease with brain calcifications 1


developmental delay with short stature, dysmorphic facial features, and sparse hair 2


growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


Rajab interstitial lung disease with brain calcifications 2


mitochondrial complex I deficiency, nuclear type 1


paroxysmal familial ventricular fibrillation


46,XX testicular disorder of sex development


familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome


tumoral calcinosis, hyperphosphatemic, familial, 1


mitochondrial complex II deficiency, nuclear type 1


Alzheimer disease, susceptibility to, mitochondrial


short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1


neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities


neuronopathy, distal hereditary motor, type 5


port-wine nevi-mega cisterna magna-hydrocephalus syndrome


short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans


lipodystrophy, partial, acquired, susceptibility to


brain malformations with or without urinary tract defects


autoimmune primary adrenal insufficiency


breasts and/or nipples, aplasia or hypoplasia of, 1


hereditary attention deficit-hyperactivity disorder


epilepsy, idiopathic generalized, susceptibility to, 17


dysplastic cortical hyperostosis, Kozlowski-Tsuruta type


Hao-Fountain syndrome due to 16p13.2 microdeletion


Emery-Dreifuss muscular dystrophy 1, X-linked


blepharospasm, benign essential, susceptibility to


familial idiopathic inflammatory myopathy


B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)


bladder exstrophy-epispadias-cloacal extrophy complex


vitiligo-associated multiple autoimmune disease susceptibility 6


chromosome 19q13.11 deletion syndrome, distal


epidermolytic hyperkeratosis 2B, autosomal recessive


epidermolytic hyperkeratosis 2A, autosomal dominant


mitochondrial complex IV deficiency, nuclear type 1


leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical


early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy


leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical


homocystinuria-megaloblastic anemia cblD type


isolated methylmalonic aciduria cblD type


ACTH-independent macronodular adrenal hyperplasia-3


familial isolated dilated cardiomyopathy


autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant


delayed sleep phase syndrome, susceptibility to


central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease


leukoencephalopathy, diffuse hereditary, with spheroids 1


dyskinesia with orofacial involvement, autosomal dominant


gastrointestinal defects and immunodeficiency syndrome 1


congenital disorder of deglycosylation 1


autoinflammatory syndrome, familial, Behcet-like 1


macrothrombocytopenia, isolated, 1, autosomal dominant


autoinflammatory syndrome with immunodeficiency


hyper-IgE recurrent infection syndrome 4A, autosomal dominant


autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency


immunodeficiency 83, susceptibility to viral infections


multicentric Castleman disease, susceptibility to


congenital myopathy 4A, autosomal dominant


UV-induced skin damage, susceptibility to


efavirenz central nervous system toxicity, susceptibility to


craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1


developmental delay with short stature, dysmorphic facial features, and sparse hair 1


bleeding diathesis due to thromboxane synthesis deficiency


bleeding disorder, platelet-type, 13, susceptibility to


leukoencephalopathy with vanishing white matter


congenital amegakaryocytic thrombocytopenia 1


F12-associated cold autoinflammatory syndrome


hereditary persistence of fetal hemoglobin-intellectual disability syndrome


immune deficiency due to impaired neutrophil phagocytosis and migration


familial hyperinflammatory lymphoproliferative immunodeficiency


non-syndromic non-specific multisutural craniosynostosis


primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome


EGF-related primary hypomagnesemia with intellectual disability


Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation


X-linked severe syndromic thoracic aortic aneurysm and dissection


SBDS-related severe neonatal spondylometaphyseal dysplasia


breast implant-associated anaplastic large cell lymphoma


early-onset obesity-hyperphagia-severe developmental delay syndrome


inclusion body myopathy and brain white matter abnormalities


mesomelic dysplasia-digital anomalies-intellectual disability syndrome


KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome


intellectual disability-early-onset cataract-microcephaly syndrome


Schistosoma mansoni infection, susceptibility/resistance to


intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


thrombophilia, X-linked, due to factor 8 defect


neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked


intellectual developmental disorder, X-linked 110


neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


blepharophimosis-impaired intellectual development syndrome


neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


growth restriction, hypoplastic kidneys, alopecia, and distinctive facies


neurodevelopmental disorder with seizures and gingival overgrowth


neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


chromosome 1p36 deletion syndrome, proximal


ataxia, intention tremor, and hypotonia syndrome, childhood-onset


deafness, cataract, impaired intellectual development, and polyneuropathy


mitochondrial complex IV deficiency, nuclear type 22


onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome


neurodevelopmental disorder with infantile epileptic spasms


neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities


myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


retinal dystrophy and microvillus inclusion disease


hemolytic disease of fetus and newborn, RH-induced


Usmani-Riazuddin syndrome, autosomal dominant


neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


developmental delay, impaired speech, and behavioral abnormalities


neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


Parkinson disease 24, autosomal dominant, susceptibility to


neurodevelopmental disorder with hypotonia and dysmorphic facies


neurodevelopmental disorder with hypotonia and brain abnormalities


neurodevelopmental disorder with seizures and brain abnormalities


muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome


neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities


biliary, renal, neurologic, and skeletal syndrome


Usmani-Riazuddin syndrome, autosomal recessive


intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies


short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies


developmental delay with or without intellectual impairment or behavioral abnormalities


cerebellar ataxia, brain abnormalities, and cardiac conduction defects


neurodevelopmental disorder with impaired language and ataxia and with or without seizures


developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities


fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies


neurodevelopmental disorder with hearing loss and spasticity


neurodevelopmental disorder with hypotonia and gross motor and speech delay


neurodevelopmental disorder with hyperkinetic movements and dyskinesia


neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


congenital heart defects, multiple types, 8, with or without heterotaxy


dystonia, early-onset, and/or spastic paraplegia


neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


developmental delay with variable neurologic and brain abnormalities


congenital disorder of glycosylation, type Iw, autosomal dominant


intellectual disability and myopathy syndrome


neurodevelopmental disorder with or without variable movement or behavioral abnormalities


combined oxidative phosphorylation deficiency 55


cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism


macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin


neurodevelopmental disorder with central hypotonia and dysmorphic facies


epidermolysis bullosa, junctional 6, with pyloric atresia


agammaglobulinemia 8b, autosomal recessive


auditory neuropathy, autosomal dominant 3


neurodevelopmental disorder with neuromuscular and skeletal abnormalities


hypoalphalipoproteinemia, primary, 2, intermediate


intellectual developmental disorder with or without peripheral neuropathy


neurodegeneration, childhood-onset, with progressive microcephaly


neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


spinocerebellar ataxia, autosomal recessive 32


corneal dystrophy, punctiform and polychromatic pre-descemet


neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


neurodevelopmental disorder with poor growth and skeletal anomalies


osteoporosis, childhood- or juvenile-onset, with developmental delay


peripheral motor neuropathy, childhood-onset, biotin-responsive


neurodevelopmental disorder with language delay and seizures


intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism


neurodevelopmental disorder with dystonia and seizures


attention deficit-hyperactivity disorder 8


developmental delay, impaired speech, and behavioral abnormalities, with or without seizures


neurodevelopmental disorder with epilepsy and brain atrophy


neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy


glycosylphosphatidylinositol biosynthesis defect 25


neurodevelopmental disorder with speech delay and variable ocular anomalies


neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects


keratoderma-ichthyosis-deafness syndrome, autosomal recessive


spinal muscular atrophy, distal, autosomal recessive, 6


developmental delay, hypotonia, and impaired language


intellectual developmental disorder with autism and dysmorphic facies


neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities


neurodevelopmental disorder with microcephaly, short stature, and speech delay


neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


neurodevelopmental disorder with microcephaly, hypotonia, and absent language


bone marrow failure and diabetes mellitus syndrome


familial apolipoprotein gene cluster deletion syndrome


developmental delay, behavioral abnormalities, and neuropsychiatric disorders


neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties


neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities


neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


neuronopathy, distal hereditary motor, autosomal dominant 10


neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2


intellectual developmental disorder with ocular anomalies and distinctive facial features


neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


neurodevelopmental disorder with eye movement abnormalities and ataxia


developmental delay with variable intellectual disability and dysmorphic facies


spastic paraplegia 88, autosomal dominant


Charcot-Marie-Tooth disease, demyelinating, type 1J


neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


neurodevelopmental disorder with speech impairment and with or without seizures


developmental and epileptic encephalopathy 108


pseudohypoaldosteronism, type IB2, autosomal recessive


pseudohypoaldosteronism, type IB3, autosomal recessive


mitochondrial complex I deficiency, nuclear type 39


mitochondrial complex 3 deficiency, nuclear type 11


myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis


combined oxidative phosphorylation deficiency 56


developmental delay, language impairment, and ocular abnormalities


developmental and epileptic encephalopathy 109


developmental and epileptic encephalopathy 110


hypomagnesemia 7, renal, with or without dilated cardiomyopathy


cortical dysplasia, complex, with other brain malformations 11


intellectual developmental disorder, autosomal dominant 70


muscular dystrophy, congenital, with or without seizures


combined oxidative phosphorylation deficiency 57


microcephaly 30, primary, autosomal recessive


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


ciliary dyskinesia, primary, 49, without situs inversus


inflammatory poikiloderma with hair abnormalities and acral keratoses


congenital disorder of glycosylation, type IIy


congenital disorder of glycosylation, type IIz


spinocerebellar ataxia, autosomal recessive 33


neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


hyperinsulinemic hypoglycemia, familial, 8


spastic paraplegia 79A, autosomal dominant, with ataxia


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


joint contractures, osteochondromas, and B-cell lymphoma


respiratory infections, recurrent, and failure to thrive with or without diarrhea


cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


intellectual developmental disorder, autosomal recessive 78


developmental delay with hypotonia, myopathy, and brain abnormalities


hydrocephalus, congenital, 5, susceptibility to


neurodevelopmental disorder with poor growth and behavioral abnormalities


neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum


congenital myopathy 2b, severe infantile, autosomal recessive


leukodystrophy, hypomyelinating, 26, with chondrodysplasia


neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


mitochondrial complex IV deficiency, nuclear type 23


congenital myopathy 2c, severe infantile, autosomal dominant


immunodeficiency 109 with lymphoproliferation


amyotrophic lateral sclerosis 27, juvenile


neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


congenital heart defects, multiple types, 9


epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2


diaphragmatic hernia 4, with cardiovascular defects


SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome


SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome


intellectual developmental disorder, X-linked 111


autoinflammation with pulmonary and cutaneous vasculitis


pituitary hormone deficiency, combined or isolated, 8


neurodegeneration and seizures due to copper transport defect


cortical dysplasia, complex, with other brain malformations 12


neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


oocyte/zygote/embryo maturation arrest 17


spastic paraplegia 70, autosomal recessive


congenital myopathy 21 with early respiratory failure


neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


oocyte/zygote/embryo maturation arrest 18


oocyte/zygote/embryo maturation arrest 19


developmental and epileptic encephalopathy, 31B


mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8


cerebroretinal microangiopathy with calcifications and cysts 3


neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity


muscular dystrophy, limb-girdle, autosomal recessive 28


autoinflammatory disease, systemic, with vasculitis


Charcot-Marie-Tooth disease, dominant intermediate A


spastic paraplegia 89, autosomal recessive


oocyte/zygote/embryo maturation arrest 20


auditory neuropathy, autosomal dominant 2


nemaline myopathy 5B, autosomal recessive, childhood-onset


nemaline myopathy 5C, autosomal dominant


intellectual developmental disorder, autosomal recessive 79


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9


palmoplantar keratoderma, epidermolytic, 2


spastic paraplegia 90A, autosomal dominant


spastic paraplegia 90B, autosomal recessive


multiple mitochondrial dysfunctions syndrome 7


dystonia 37, early-onset, with striatal lesions


neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


autoimmune disease, multisystem, infantile-onset, 3


intellectual developmental disorder, autosomal dominant 72


B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


B-lymphoblastic leukemia/lymphoma with t(17;19)


autosomal recessive ataxia due to PEX16 deficiency


autosomal recessive ataxia due to PEX2 deficiency


craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome


MYT1L-related developmental delay-intellectual disability-obesity syndrome


autoinflammatory disease, multisystem, with immune dysregulation, X-linked


hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


intellectual developmental disorder, X-linked 112


disabling pansclerotic morphea of childhood


breast-ovarian cancer, familial, susceptibility to, 5


neurodevelopmental disorder with microcephaly and movement abnormalities


megalencephalic leukoencephalopathy with subcortical cysts 3


megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


intellectual developmental disorder, autosomal dominant 73


combined oxidative phosphorylation deficiency 58


congenital disorder of glycosylation, type IIaa


neurodevelopmental disorder with hypotonia and speech delay, with or without seizures


cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay


congenital smooth muscle hamartoma, with or without hemihypertrophy


amegakaryocytic thrombocytopenia, congenital, 2


Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development


neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities


neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


neurodevelopmental disorder with language delay and variable cognitive abnormalities


developmental and epileptic encephalopathy 111


xerosis and growth failure with immune and pulmonary dysfunction syndrome


spastic paraplegia 18a, autosomal dominant


immune dysregulation, autoimmunity, and autoinflammation


neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction


arrhythmogenic cardiomyopathy with variable ectodermal abnormalities


hyper-IgE syndrome 6, autosomal dominant, with recurrent infections


neutropenia, severe congenital, 10, autosomal recessive


developmental delay, dysmorphic facies, and brain anomalies


developmental and epileptic encephalopathy 112


spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia


developmental delay with or without epilepsy


congenital disorder of glycosylation, type IIbb


craniometadiaphyseal osteosclerosis with hip dysplasia


leukoencephalopathy with vanishing white matter 2


leukoencephalopathy with vanishing white matter 3


leukoencephalopathy with vanishing white matter 4


leukoencephalopathy with vanishing white matter 5


neuronopathy, distal hereditary motor, autosomal recessive 9


neuronopathy, distal hereditary motor, autosomal dominant 11


neuronopathy, distal hereditary motor, autosomal recessive 10


immunodeficiency 113 with autoimmunity and autoinflammation


spastic paraplegia 72b, autosomal recessive


oocyte/zygote/embryo maturation arrest 21


immunodeficiency 115 with autoinflammation


neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline


combined oxidative phosphorylation deficiency 59


progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6


diabetes, deafness, developmental delay, and short stature syndrome


intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies


spondyloepimetaphyseal dysplasia, Guo-Campeau type


neurodegeneration with brain iron accumulation 9


neutropenia, severe congenital, 11, autosomal dominant


lipodystrophy, congenital generalized, type 5


Hao-Fountain syndrome due to USP7 mutation


adult-onset progressive leukoencephalopathy-early-onset deafness


congenital insensitivity to pain syndrome, Marsili type


autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


autosomal recessive combined immunodeficiency due to partial IL6ST deficiency


autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


autosomal recessive combined immunodeficiency due to IL6R deficiency


autosomal dominant combined immunodeficiency due to ERBIN deficiency


COQ7-related distal hereditary motor neuropathy


early-onset autoimmune disorder due to DOCK11 partial deficiency


early-onset immune dysregulation due to DOCK11 complete deficiency


chronic recurrent multifocal osteomyelitis 3


cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1


mitochondrial trifunctional protein deficiency 1


Leber-like hereditary optic neuropathy, autosomal recessive 1


mitochondrial trifunctional protein deficiency 2


nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis


cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2


epilepsy, early-onset, 3, with or without developmental delay


Leber-like hereditary optic neuropathy, autosomal recessive 2


intellectual developmental disorder, X-linked 113


intellectual developmental disorder, autosomal dominant 74


intellectual developmental disorder, autosomal recessive 81


neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism


Ullrich congenital muscular dystrophy 1B


Ullrich congenital muscular dystrophy 1C


hyperemesis gravidarum, susceptibility to


neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities


cardiomyopathy, familial hypertrophic, 30, atrial


isolated primary pigmented nodular adrenocortical disease


isolated micronodular adrenocortical disease


neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


intellectual developmental disorder, X-linked, syndromic 37


neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities


generalized epilepsy with febrile seizures plus, type 12


thrombocytopenia 12 with or without myopathy


macular dystrophy with or without cone dysfunction


developmental and epileptic encephalopathy 113


developmental and epileptic encephalopathy 114


neuromuscular disorder, congenital, with dysmorphic facies


cutis laxa, autosomal recessive, type 1d


intermediate collagen VI-related muscular dystrophy


genetic central precocious puberty in female


intellectual developmental disorder, autosomal recessive 82


neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder


developmental and epileptic encephalopathy 115


neurodevelopmental disorder plus optic atrophy


neurodevelopmental disorder with progressive movement abnormalities


basal ganglia calcification, idiopathic, 9, autosomal recessive


neurodevelopmental disorder with hypotonia and seizures


autosomal recessive nonsyndromic hearing loss 124


autoinflammation with episodic fever and immune dysregulation


proteasome-associated autoinflammatory syndrome 6


genetic central precocious puberty in male


developmental and epileptic encephalopathy 116


El Hayek-Chahrour neurodevelopmental disorder


immunodeficiency 121 with autoinflammation


neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities


developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation


autosomal dominant dopa-responsive dystonia


orofacial clefting-cardiac anomalies-facial dysmorphism syndrome


Phelan-McDermid syndrome due to 22q13.3 deletion


Phelan-McDermid syndrome due to SHANK3 mutation


cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation


severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome


progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN


spastic paraplegia 30b, autosomal recessive


neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity


muscular dystrophy, limb-girdle, autosomal recessive 29


autoinflammation with arthritis and vasculitis


multiple mitochondrial dysfunctions syndrome 9b


immunodeficiency 123 with HPV-related verrucosis


arterial tortuosity-bone fragility syndrome


neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1


spastic paraplegia 92, autosomal recessive


Parkinson disease 26, autosomal dominant, susceptibility to


brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation


spastic paraplegia 93, autosomal recessive


myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities


methylmalonic aciduria and homocystinuria, cb1L type


multiple mitochondrial dysfunctions syndrome 10


cholestasis, progressive familial intrahepatic, 13


arthrogryposis multiplex congenita 7, X-linked


intellectual developmental disorder, X-linked 114


anemia, congenital dyserythropoietic, type IVb


myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2


neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities


intellectual developmental disorder, autosomal dominant 75


congenital disorder of glycosylation, type 1DD


autoimmune disease with susceptibility to mycobacterium tuberculosis


neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities


basal ganglia calcification, idiopathic, 10, autosomal recessive


neurodevelopmental disorder with variable familial hypercholanemia


intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome


combined immunodeficiency due to TBX1 deficiency


reticular dysgenesis-like severe combined immunodeficiency


telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature


intellectual developmental disorder with polymicrogyria and seizures


neurodevelopmental disorder with speech or visual impairment and brain hypomyelination


neurodevelopmental disorder with microcephaly, absent speech, and hypotonia


epilepsy, idiopathic generalized, susceptibility to, 19


neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies


neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia


myopathy, myofibrillar, 13, with rimmed vacuoles


ocular pterygium-digital keloid dysplasia syndrome


oocyte/zygote/embryo maturation arrest 22


neuronopathy, distal hereditary motor, autosomal dominant 15


Charcot-Marie-tooth disease, axonal, type 2JJ


spondyloepimetaphyseal dysplasia, Li-Shao-Li type


intellectual developmental disorder, autosomal recessive 83


neurodevelopmental disorder with progressive spasticity and brain abnormalities


tubulointerstitial kidney disease, autosomal dominant 6


neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment


congenital disorder of glycosylation type 1EE with or without immunodeficiency


neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language


neurodevelopmental disorder with white matter abnormalities and gait disturbance


neurodevelopmental disorder with poor growth, seizures, and brain abnormalities


polycystic kidney disease 9, susceptibility to


neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities


congenital muscular dystrophy without intellectual disability


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome


visceral neuropathy, familial, 1, autosomal recessive


neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD


ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY


#111620 RADIN BLOOD GROUP ANTIGEN; RD;;BLOOD GROUP--RADIN ANTIGEN


DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1


ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS


ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES


ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO


FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2


MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS


NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2


Accessory navicular bone of foot (disorder)


Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia


Trichorhinophalangeal Syndrome, Type III


Cafe-au-lait macules with pulmonary stenosis


Skin-Hair-Eye Pigmentation, Variation In, 6


DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF


DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1


SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1


Skin-Hair-Eye Pigmentation, Variation In, 5


Neurovisceral Storage Disease with Curvilinear Bodies


Pallidal Degeneration, Progressive, with Retinitis Pigmentosa


Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole


SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS


Thumb Agenesis, Short Stature, And Immunodeficiency


Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness


MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3


RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER


Platelet Disorder, Familial, with Associated Myeloid Malignancy


SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3


BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9


CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3


PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY


DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3


HEMOGLOBIN, HIGH ALTITUDE ADAPTATION PHENOTYPE


Hereditary Non-Polyposis Colon Cancer Type 2


Neutropenia, Severe Congenital, Autosomal Recessive 3


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


Skin/Hair/Eye Pigmentation, Variation In, 7


Skin-Hair-Eye Pigmentation, Variation In, 8


Skin-Hair-Eye Pigmentation, Variation In, 9


WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1


RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1


Skin-Hair-Eye Pigmentation, Variation In, 10


Skin-Hair-Eye Pigmentation, Variation In, 11


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14


Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome


VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1


ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12


COLORECTAL CANCER, SUSCEPTIBILITY TO, 10


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12


FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1


INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8


Rhabdoid Tumor Predisposition Syndrome 2


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15


FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5


Antibody Deficiency due to Defect in CD19


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6


LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2


Dyskeratosis Congenita, Autosomal Recessive 3


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2


Dyskeratosis Congenita, Autosomal Dominant 3


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5


Colorectal Cancer, Hereditary Nonpolyposis, Type 7


ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO


ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL


SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS


IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY


BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7


INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS


COLORECTAL CANCER, SUSCEPTIBILITY TO, 12


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18


IL21-related infantile inflammatory bowel disease


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10


PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS


ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF


Progeroid features, hepatocellular carcinoma predisposition syndrome


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7


IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15


MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO


NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3


SESSILE SERRATED POLYPOSIS CANCER SYNDROME


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16


DRUG METABOLISM, ALTERED, CYP2C8-RELATED


LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8


PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1


SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8


MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION


LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3


ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12


Maturity-onset diabetes of the young, type 12


Ectodermal dysplasia 17 with or without limb malformations


Oocyte/zygote/embryo maturation arrest 23


Oocyte/zygote/embryo maturation arrest 24


Autoimmune disease, multisystem, infantile-onset, 5


Developmental and epileptic encephalopathy 118


Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy


Short-rib thoracic dysplasia 22 without polydactyly


Cardiomyopathy, familial hypertrophic, 31


Intellectual developmental disorder, autosomal dominant 76


Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk


Hereditary breast and/or ovarian cancer syndrome


Hemophagocytic syndrome associated with an infection


Attenuated familial adenomatous polyposis


Genetic transient congenital hypothyroidism


High-grade dysplasia in patients with Barrett esophagus


Genetic hyperferritinemia without iron overload


Severe intellectual disability and progressive spastic paraplegia


Deficiency in anterior pituitary function-variable immunodeficiency syndrome


Deafness-enamel hypoplasia-nail defects syndrome


Generalized juvenile polyposis/juvenile polyposis coli


Congenital myasthenic syndromes with glycosylation defect


Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


X-linked intellectual disability due to GRIA3 mutations


Congenital muscular dystrophy with cerebellar involvement


Silver-Russell syndrome due to a point mutation


Male infertility with azoospermia or oligozoospermia due to single gene mutation


Idiopathic/heritable pulmonary arterial hypertension


Microcephalic primordial dwarfism-insulin resistance syndrome


Symptomatic form of HFE-related hemochromatosis


Hereditary leiomyomatosis and renal cell cancer


CAR T cell therapy-associated cytokine release syndrome


Primary hypomagnesemia-refractory seizures-intellectual disability syndrome


Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta


Familial isolated restrictive cardiomyopathy


46,XY difference of sex development due to isolated 17,20-lyase deficiency


Midline interhemispheric variant of holoprosencephaly


Autosomal recessive Emery-Dreifuss muscular dystrophy


Presynaptic congenital myasthenic syndromes


Synaptic congenital myasthenic syndromes